OFC6
MCID: ORF025
MIFTS: 25

Orofacial Cleft 6 (OFC6)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 6

MalaCards integrated aliases for Orofacial Cleft 6:

Name: Orofacial Cleft 6 57 12 72 13
Orofacial Cleft 6, Susceptibility to 57 29 6
Ofc6 57 72
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 6 57
Non-Syndromic Cleft Lip with or Without Cleft Palate 6 72
Non-Syndromic Cleft Lip/palate 6 72
Non-Syndromic Orofacial Cleft 6 72
Orofacial Cleft, Type 6 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see ofc1, )
allelic disorder to van der woude syndrome (vws, ) and popliteal pterygium syndrome (pps, )



Classifications:



External Ids:

Disease Ontology 12 DOID:0080593
OMIM® 57 608864
OMIM Phenotypic Series 57 PS119530
MeSH 44 D002971
MedGen 41 C1837213

Summaries for Orofacial Cleft 6

UniProtKB/Swiss-Prot : 72 Non-syndromic orofacial cleft 6: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

MalaCards based summary : Orofacial Cleft 6, is also known as orofacial cleft 6, susceptibility to. An important gene associated with Orofacial Cleft 6 is IRF6 (Interferon Regulatory Factor 6). Related phenotypes are cleft palate and cleft upper lip

Disease Ontology : 12 An orofacial cleft that has material basis in variation in an enhancer of the IRF6 gene on chromosome 1q32.

OMIM® : 57 Orofacial cleft-6 (OFD6) is characterized by isolated cleft lip or cleft palate or by cleft lip and cleft palate (Rahimov et al., 2008; Pan et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see 119530. (608864) (Updated 05-Apr-2021)

Related Diseases for Orofacial Cleft 6

Symptoms & Phenotypes for Orofacial Cleft 6

Human phenotypes related to Orofacial Cleft 6:

31
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 cleft upper lip 31 HP:0000204

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate, isolated
cleft lip, isolated
cleft lip and cleft palate

Clinical features from OMIM®:

608864 (Updated 05-Apr-2021)

Drugs & Therapeutics for Orofacial Cleft 6

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 6

Genetic Tests for Orofacial Cleft 6

Genetic tests related to Orofacial Cleft 6:

# Genetic test Affiliating Genes
1 Orofacial Cleft 6, Susceptibility to 29 IRF6

Anatomical Context for Orofacial Cleft 6

Publications for Orofacial Cleft 6

Articles related to Orofacial Cleft 6:

(show all 31)
# Title Authors PMID Year
1
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. 6
29453417 2018
2
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. 6
27834299 2017
3
Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions. 6
25784454 2015
4
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. 6
25548624 2014
5
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. 6
25547932 2014
6
Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate. 6
23394314 2014
7
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. 6
23154523 2013
8
EEC syndrome-like phenotype in a patient with an IRF6 mutation. 6
22488974 2012
9
Novel IRF6 mutations in Honduran Van der Woude syndrome patients. 6
21468557 2011
10
IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population. 57
20799332 2010
11
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. 6
20184620 2010
12
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. 6
21045959 2010
13
Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. 6
19842205 2009
14
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. 6
19623037 2009
15
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? 6
19449419 2009
16
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. 6
19282774 2009
17
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. 6
19036739 2009
18
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. 57
18836445 2008
19
A familial case of popliteal pterygium syndrome. 6
18617879 2008
20
Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America. 57
17702008 2007
21
Novel IRF6 mutations in Chinese patients with Van der Woude syndrome. 6
16998136 2006
22
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. 6
16160700 2005
23
Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome. 6
16211254 2005
24
Variation in IRF6 contributes to nonsyndromic cleft lip and palate. 57
16096995 2005
25
Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. 57
15558496 2005
26
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. 6
15472655 2004
27
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. 57
15317890 2004
28
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 6
12219090 2002
29
Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). 57
11746036 2001
30
Van der Woude syndrome and nonsyndromic cleft lip and palate. 57
1642245 1992
31
Family history and socioeconomic risk factors for non-syndromic cleft lip and palate: a matched case-control study in a less developed country. 61
22674314 2011

Variations for Orofacial Cleft 6

ClinVar genetic disease variations for Orofacial Cleft 6:

6 (show top 50) (show all 130)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRF6 NM_006147.4(IRF6):c.749G>A (p.Arg250Gln) SNV Pathogenic 458684 rs1553247774 GRCh37: 1:209964151-209964151
GRCh38: 1:209790806-209790806
2 IRF6 NM_006147.4(IRF6):c.226C>T (p.Pro76Ser) SNV Pathogenic 265196 rs886039388 GRCh37: 1:209969846-209969846
GRCh38: 1:209796501-209796501
3 IRF6 NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter) SNV Pathogenic 458682 rs1553247595 GRCh37: 1:209961935-209961935
GRCh38: 1:209788590-209788590
4 IRF6 NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) SNV Pathogenic 3414 rs121434226 GRCh37: 1:209969822-209969822
GRCh38: 1:209796477-209796477
5 IRF6 NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs) Deletion Pathogenic 583293 rs1558038218 GRCh37: 1:209961845-209961855
GRCh38: 1:209788500-209788510
6 IRF6 NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) SNV Pathogenic 3417 rs28942094 GRCh37: 1:209974743-209974743
GRCh38: 1:209801398-209801398
7 IRF6 NM_006147.4(IRF6):c.133del (p.Arg45fs) Deletion Pathogenic 659301 rs1571986293 GRCh37: 1:209974626-209974626
GRCh38: 1:209801281-209801281
8 IRF6 NM_006147.4(IRF6):c.145C>T (p.Gln49Ter) SNV Pathogenic 40077 rs397515434 GRCh37: 1:209974614-209974614
GRCh38: 1:209801269-209801269
9 IRF6 NM_006147.4(IRF6):c.251G>A (p.Arg84His) SNV Pathogenic 3415 rs121434227 GRCh37: 1:209969821-209969821
GRCh38: 1:209796476-209796476
10 IRF6 NM_006147.4(IRF6):c.180G>A (p.Trp60Ter) SNV Pathogenic 843190 GRCh37: 1:209969892-209969892
GRCh38: 1:209796547-209796547
11 IRF6 NM_006147.4(IRF6):c.989C>A (p.Ser330Ter) SNV Pathogenic 844327 GRCh37: 1:209963911-209963911
GRCh38: 1:209790566-209790566
12 IRF6 NM_006147.4(IRF6):c.179G>A (p.Trp60Ter) SNV Pathogenic 851809 GRCh37: 1:209969893-209969893
GRCh38: 1:209796548-209796548
13 IRF6 NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) SNV Pathogenic 3419 rs28942095 GRCh37: 1:209961971-209961971
GRCh38: 1:209788626-209788626
14 IRF6 NM_006147.4(IRF6):c.108_109delinsG (p.Phe36fs) Indel Pathogenic 972274 GRCh37: 1:209974650-209974651
GRCh38: 1:209801305-209801306
15 IRF6 NM_006147.4(IRF6):c.622C>T (p.Gln208Ter) SNV Pathogenic 938570 GRCh37: 1:209965659-209965659
GRCh38: 1:209792314-209792314
16 IRF6 NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr) SNV Likely pathogenic 849913 GRCh37: 1:209963070-209963070
GRCh38: 1:209789725-209789725
17 IRF6 NM_006147.4(IRF6):c.292G>C (p.Asp98His) SNV Likely pathogenic 650115 rs1571983348 GRCh37: 1:209969780-209969780
GRCh38: 1:209796435-209796435
18 IRF6 NM_006147.4(IRF6):c.25C>T (p.Arg9Trp) SNV Likely pathogenic 449039 rs1553248641 GRCh37: 1:209974734-209974734
GRCh38: 1:209801389-209801389
19 IRF6 NM_006147.4(IRF6):c.176C>T (p.Ala59Val) SNV Likely pathogenic 663350 rs1571983440 GRCh37: 1:209969896-209969896
GRCh38: 1:209796551-209796551
20 IRF6 NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr) SNV Likely pathogenic 643611 rs1571979607 GRCh37: 1:209963950-209963950
GRCh38: 1:209790605-209790605
21 IRF6 NM_006147.4(IRF6):c.665C>T (p.Pro222Leu) SNV Uncertain significance 644879 rs1571980623 GRCh37: 1:209965616-209965616
GRCh38: 1:209792271-209792271
22 IRF6 NM_006147.4(IRF6):c.174+2dup Duplication Uncertain significance 568248 rs1558042839 GRCh37: 1:209974582-209974583
GRCh38: 1:209801237-209801238
23 IRF6 NM_006147.4(IRF6):c.565G>A (p.Glu189Lys) SNV Uncertain significance 576768 rs1558039763 GRCh37: 1:209965716-209965716
GRCh38: 1:209792371-209792371
24 IRF6 NM_006147.4(IRF6):c.41_42delinsGT (p.Leu14Arg) Indel Uncertain significance 579346 rs1558042905 GRCh37: 1:209974717-209974718
GRCh38: 1:209801372-209801373
25 IRF6 NM_006147.4(IRF6):c.260T>C (p.Leu87Pro) SNV Uncertain significance 533110 rs1553248267 GRCh37: 1:209969812-209969812
GRCh38: 1:209796467-209796467
26 IRF6 NM_006147.4(IRF6):c.889G>A (p.Val297Ile) SNV Uncertain significance 533111 rs779827384 GRCh37: 1:209964011-209964011
GRCh38: 1:209790666-209790666
27 IRF6 NM_006147.4(IRF6):c.668-5T>G SNV Uncertain significance 533112 rs1553247787 GRCh37: 1:209964237-209964237
GRCh38: 1:209790892-209790892
28 IRF6 NM_006147.4(IRF6):c.264T>A (p.Asn88Lys) SNV Uncertain significance 533113 rs1553248265 GRCh37: 1:209969808-209969808
GRCh38: 1:209796463-209796463
29 IRF6 NM_006147.4(IRF6):c.1368del (p.Ser457fs) Deletion Uncertain significance 533114 rs1553247577 GRCh37: 1:209961801-209961801
GRCh38: 1:209788456-209788456
30 IRF6 NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys) SNV Uncertain significance 217873 rs769068305 GRCh37: 1:209961959-209961959
GRCh38: 1:209788614-209788614
31 IRF6 NM_006147.4(IRF6):c.82T>G (p.Trp28Gly) SNV Uncertain significance 464464 rs1553248637 GRCh37: 1:209974677-209974677
GRCh38: 1:209801332-209801332
32 IRF6 NM_006147.4(IRF6):c.1268T>G (p.Ile423Ser) SNV Uncertain significance 464462 rs1553247592 GRCh37: 1:209961901-209961901
GRCh38: 1:209788556-209788556
33 IRF6 NM_006147.4(IRF6):c.*1767G>A SNV Uncertain significance 295180 rs886045878 GRCh37: 1:209959998-209959998
GRCh38: 1:209786653-209786653
34 IRF6 NM_006147.4(IRF6):c.964T>A (p.Tyr322Asn) SNV Uncertain significance 464465 rs1553247754 GRCh37: 1:209963936-209963936
GRCh38: 1:209790591-209790591
35 IRF6 NM_006147.4(IRF6):c.242C>A (p.Ala81Asp) SNV Uncertain significance 464463 rs1553248270 GRCh37: 1:209969830-209969830
GRCh38: 1:209796485-209796485
36 IRF6 NM_006147.4(IRF6):c.1055T>G (p.Leu352Arg) SNV Uncertain significance 464461 rs1553247744 GRCh37: 1:209963845-209963845
GRCh38: 1:209790500-209790500
37 IRF6 NM_006147.4(IRF6):c.-98T>C SNV Uncertain significance 295216 rs886045886 GRCh37: 1:209979314-209979314
GRCh38: 1:209805969-209805969
38 IRF6 NM_006147.4(IRF6):c.*1844G>A SNV Uncertain significance 295179 rs886045877 GRCh37: 1:209959921-209959921
GRCh38: 1:209786576-209786576
39 IRF6 NM_006147.4(IRF6):c.598A>G (p.Met200Val) SNV Uncertain significance 295209 rs886045884 GRCh37: 1:209965683-209965683
GRCh38: 1:209792338-209792338
40 IRF6 NM_006147.4(IRF6):c.1388C>T (p.Ala463Val) SNV Uncertain significance 295206 rs886045883 GRCh37: 1:209961781-209961781
GRCh38: 1:209788436-209788436
41 IRF6 NM_006147.4(IRF6):c.*1473C>G SNV Uncertain significance 295183 rs531092939 GRCh37: 1:209960292-209960292
GRCh38: 1:209786947-209786947
42 IRF6 NM_006147.4(IRF6):c.*2268C>T SNV Uncertain significance 295174 rs752399888 GRCh37: 1:209959497-209959497
GRCh38: 1:209786152-209786152
43 IRF6 NM_006147.4(IRF6):c.*1123T>C SNV Uncertain significance 295187 rs886045879 GRCh37: 1:209960642-209960642
GRCh38: 1:209787297-209787297
44 IRF6 NM_006147.4(IRF6):c.*2344C>T SNV Uncertain significance 295173 rs866747914 GRCh37: 1:209959421-209959421
GRCh38: 1:209786076-209786076
45 IRF6 NM_006147.4(IRF6):c.1007T>G (p.Leu336Arg) SNV Uncertain significance 295207 rs761816133 GRCh37: 1:209963893-209963893
GRCh38: 1:209790548-209790548
46 IRF6 NM_006147.4(IRF6):c.*2795G>A SNV Uncertain significance 295168 rs760763242 GRCh37: 1:209958970-209958970
GRCh38: 1:209785625-209785625
47 IRF6 NM_006147.4(IRF6):c.*575T>A SNV Uncertain significance 295196 rs561885624 GRCh37: 1:209961190-209961190
GRCh38: 1:209787845-209787845
48 IRF6 NM_006147.4(IRF6):c.*2064G>A SNV Uncertain significance 295177 rs886045876 GRCh37: 1:209959701-209959701
GRCh38: 1:209786356-209786356
49 IRF6 NM_006147.4(IRF6):c.*591T>G SNV Uncertain significance 295195 rs576516344 GRCh37: 1:209961174-209961174
GRCh38: 1:209787829-209787829
50 IRF6 NM_006147.4(IRF6):c.-3-11G>C SNV Uncertain significance 295212 rs886045885 GRCh37: 1:209974772-209974772
GRCh38: 1:209801427-209801427

UniProtKB/Swiss-Prot genetic disease variations for Orofacial Cleft 6:

72
# Symbol AA change Variation ID SNP ID
1 IRF6 p.Phe369Ser VAR_014988 rs118541231

Expression for Orofacial Cleft 6

Search GEO for disease gene expression data for Orofacial Cleft 6.

Pathways for Orofacial Cleft 6

GO Terms for Orofacial Cleft 6

Sources for Orofacial Cleft 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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